Search results: The pahtway p2471 has 357 genes in the original annotation. Currently, there are 212 genes in SZGR 2.0 (with evidence in schizophrenia) that are present at this pathway.

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Gene ID Symbol Synonyms Official Full Name Location SZ group ? Functional group ?
5995RGRRP44retinal G protein coupled receptor10q23CV:PGCnp
DMG:Wockner_2014
1559CYP2C9CPC9 | CYP2C | CYP2C10 | CYPIIC9 | P450IIC9cytochrome P450 family 2 subfamily C member 910q24CV:GWASdb
CV:PGCnp
PMID:cooccur
1244ABCC2ABC30 | CMOAT | DJS | MRP2 | cMRPATP binding cassette subfamily C member 210q24CV:PGCnp
DMG:Wockner_2014
1586CYP17A1CPT7 | CYP17 | P450C17 | S17AHcytochrome P450 family 17 subfamily A member 110q24.3CV:GWAScat
CV:PGC128
CV:PGCnp
GO_Annotation
LK:YES
7511XPNPEP1APP1 | SAMP | XPNPEP | XPNPEPL | XPNPEPL1X-prolyl aminopeptidase (aminopeptidase P) 1, soluble10q25.3CV:PGCnp
DMG:Jaffe_2016
DNM:McCarthy_2014
Ascano FMRP targets
10570DPYSL4CRMP3 | DRP-4 | ULIP4dihydropyrimidinase like 410q26CV:PGCnp
DMG:Wockner_2014
GO_Annotation
GSMA_IIA
STRUCTURAL PLASTICITY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_clathrin
G2Cdb.human_Synaptosome
G2Cdb.humanPSD
G2Cdb.humanPSP
259217HSPA12A-heat shock protein family A (Hsp70) member 12A10q26.12CV:PGCnp
PMID:cooccur
RNA AND PROTEIN SYNTHESIS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
3732CD824F9 | C33 | GR15 | IA4 | KAI1 | R2 | SAR2 | ST6 | TSPAN27CD82 molecule11p11.2CV:PGCnp
Network
6506SLC1A2EAAT2 | GLT-1 | HBGTsolute carrier family 1 member 211p13Association
CV:GWASdb
CV:PGCnp
Expression
GO_Annotation
GR_COR
GR_Ng
GR_WM
PMID:cooccur
NEUROTRANSMITTER METABOLISM
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_clathrin
G2Cdb.human_Synaptosome
G2Cdb.human_TAP-PSD-95-CORE
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
2488FSHBHH24follicle stimulating hormone beta subunit11p13CV:PGCnp
10083USH1CAIE-75 | DFNB18 | DFNB18A | NY-CO-37 | NY-CO-38 | PDZ-45 | PDZ-73 | PDZ-73/NY-CO-38 | PDZ73 | PDZD7C | ush1cpstUSH1 protein network component harmonin11p14.3CV:PGCnp
10068IL18BPIL18BPainterleukin 18 binding protein11q13CV:PGCnp
PMID:cooccur
221ALDH3B1ALDH4 | ALDH7aldehyde dehydrogenase 3 family member B111q13CV:PGCnp
DMG:vanEijk_2014
DMG:Wockner_2014
PMID:cooccur
23769FLRT1SPG68fibronectin leucine rich transmembrane protein 111q13.1CV:PGCnp
91683SYT12SYT11 | sytXIIsynaptotagmin 1211q13.2CV:PGCnp
GO_Annotation
EXOCYTOSIS
7299TYRATN | CMM8 | OCA1 | OCA1A | OCAIA | SHEP3tyrosinase11q14.3CV:PGCnp
CV:PheWAS
PMID:cooccur
7379UPK2UP2 | UPIIuroplakin 211q23CV:PGCnp
GSMA_I
1813DRD2D2DR | D2Rdopamine receptor D211q23ADT:Sun_2012
Association
Core
CV:GWAScat
CV:GWASdb
CV:PGC128
CV:PGCnp
GO_Annotation
GR_COR
GR_Ng
GR_WM
GSMA_I
Network
PMID:cooccur
GPCR SIGNALLING
Potential synaptic genes
867CBLC-CBL | CBL2 | FRA11B | NSLL | RNF55Cbl proto-oncogene, E3 ubiquitin protein ligase11q23.3CV:PGCnp
GSMA_I
Network
PMID:cooccur
339APOBEC1APOBEC-1 | BEDP | CDAR1 | HEPRapolipoprotein B mRNA editing enzyme catalytic subunit 112p13.1CV:PGCnp
57101ANO2C12orf3 | TMEM16Banoctamin 212p13.3CV:GWASdb
CV:PGCnp
6540SLC6A13GAT-2 | GAT2 | GAT3solute carrier family 6 member 1312p13.3CV:PGCnp
GO_Annotation
PMID:cooccur
9700ESPL1ESP1 | SEPAextra spindle pole bodies like 1, separase12qCV:PGCnp
GO_Annotation
Ascano FMRP targets
363AQP6AQP2L | KIDaquaporin 612q13CV:PGCnp
DMG:Montano_2016
3891KRT85ECTD4 | HB5 | Hb-5 | K85 | KRTHB5 | hHb5keratin 8512q13CV:GWASdb
CV:PGCnp
269AMHR2AMHR | MISR2 | MISRII | MRIIanti-Mullerian hormone receptor type II12q13CV:PGCnp
7421VDRNR1I1 | PPP1R163vitamin D (1,25- dihydroxyvitamin D3) receptor12q13.11CV:PGCnp
Network
PMID:cooccur
904CCNT1CCNT | CYCT1 | HIVE1cyclin T112q13.11DMG:Nishioka_2013
Expression
10024TROAPTASTINtrophinin associated protein12q13.12DMG:Jaffe_2016
23109DDN-dendrin12q13.12CV:PGCnp
PMID:cooccur
CompositeSet
Darnell FMRP targets
196403DTX3RNF154 | deltex3deltex 3, E3 ubiquitin ligase12q13.3DMG:vanEijk_2014
9671WSCD2-WSC domain containing 212q23.3CV:GWASdb
CV:PGCnp
Expression
1610DAODAAO | DAMOX | OXDAD-amino-acid oxidase12q24Association
Core
CV:PGCnp
GR_COR
GR_Ng
GR_WM
Network
PMID:cooccur
79369B3GNT4B3GN-T4 | beta3Gn-T4UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 412q24CV:PGCnp
2835GPR12GPCR12 | GPCR21 | PPP1R84G protein-coupled receptor 1213q12CV:PGCnp
DMG:Wockner_2014
6315ATXN8OSKLHL1AS | NCRNA00003 | SCA8ATXN8 opposite strand (non-protein coding)13q21Association
CV:PGCnp
DMG:Wockner_2014
1638DCTTRP-2 | TYRP2dopachrome tautomerase13q32CV:PGCnp
PMID:cooccur
11154AP4S1AP47B | CLA20 | CLAPS4 | CPSQ6 | SPG52adaptor related protein complex 4 sigma 1 subunit14q12CV:PGCnp
GSMA_I
6710SPTBEL3 | HS2 | HSPTB1 | SPH2spectrin beta, erythrocytic14q23.3CV:PGCnp
DMG:Wockner_2014
PMID:cooccur
STRUCTURAL PLASTICITY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
CompositeSet
Darnell FMRP targets
54207KCNK10K2p10.1 | PPP1R97 | TREK-2 | TREK2potassium two pore domain channel subfamily K member 1014q31.3CV:GWASdb
CV:PGCnp
PMID:cooccur
8812CCNKCPR4cyclin K14q32CV:PGCnp
DMG:Jaffe_2016
55384MEG3FP504 | GTL2 | LINC00023 | NCRNA00023 | PRO0518 | PRO2160 | onco-lncRNA-83 | prebp1maternally expressed 3 (non-protein coding)14q32CV:PGCnp
DMG:Wockner_2014
Expression
7127TNFAIP2B94 | EXOC3L3TNF alpha induced protein 214q32CV:PGCnp
DEG:Zhao_2015
115708TRMT61AC14orf172 | GCD14 | Gcd14p | TRM61 | hTRM61tRNA methyltransferase 61A14q32CV:PGCnp
79890RIN3-Ras and Rab interactor 314q32.12CV:PGCnp
DMG:Wockner_2014
57369GJD2CX36 | GJA9gap junction protein delta 215q14CV:PGCnp
GO_Annotation
54866PPP1R14DCPI17-like | GBPI-1 | GBPI1protein phosphatase 1 regulatory inhibitor subunit 14D15q15.1CV:PGCnp
DNM:Xu_2012
CompositeSet
4130MAP1AMAP1L | MTAP1Amicrotubule associated protein 1A15q15.3CV:PGCnp
Network
PMID:cooccur
STRUCTURAL PLASTICITY
G2Cdb.human_mGluR5
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
51332SPTBN5BSPECV | HUBSPECV | HUSPECVspectrin beta, non-erythrocytic 515q21CV:PGCnp
DMG:Wockner_2014
DNM:Fromer_2014
CompositeSet
3990LIPCHDLCQ12 | HL | HTGL | LIPHlipase C, hepatic type15q21.3CV:PGCnp
PMID:cooccur
771CA12CA-XII | CAXII | HsT18816 | T18816carbonic anhydrase XII15q22CV:PGCnp
DMG:Wockner_2014
1136CHRNA3LNCR2 | NACHRA3 | PAOD2cholinergic receptor nicotinic alpha 3 subunit15q24CV:GWAScat
CV:PGC128
CV:PGCnp
GO_Annotation
PMID:cooccur
56905C15orf39-chromosome 15 open reading frame 3915q24.2CV:PGCnp
DMG:vanEijk_2014
DMG:Wockner_2014
Ascano FMRP targets
9154SLC28A1CNT1 | HCNT1solute carrier family 28 member 115q25.3CV:PGCnp
1133CHRM5HM5cholinergic receptor muscarinic 515q26ADT:Sun_2012
Association
CV:PGCnp
GO_Annotation
PMID:cooccur
6911TBX6SCDO5T-box 616p11.2CNV:YES
CV:PGCnp
DMG:Wockner_2014
GSMA_IIE
343AQP8AQP-8aquaporin 816p12CV:PGCnp
GSMA_IIE
10368CACNG3-calcium voltage-gated channel auxiliary subunit gamma 316p12.1CV:PGCnp
DEG:Maycox_2009
GO_Annotation
GSMA_IIE
CANABINOID
DOPAMINE
EXCITABILITY
METABOTROPIC GLUTAMATE RECEPTOR
SEROTONIN
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Potential synaptic genes
10595ERN2IRE1-BETA | IRE1b | IRE2p | hIRE2pendoplasmic reticulum to nucleus signaling 216p12.2CV:PGCnp
DMG:Wockner_2014
GSMA_IIE
8651SOCS1CIS1 | CISH1 | JAB | SOCS-1 | SSI-1 | SSI1 | TIP3suppressor of cytokine signaling 116p13.13CV:PGCnp
DMG:Nishioka_2013
899CCNFFBX1 | FBXO1cyclin F16p13.3CV:PGCnp
DMG:Nishioka_2013
766CA7CAVIIcarbonic anhydrase VII16q22.1CV:PGCnp
DMG:Jaffe_2016
794CALB2CAB29 | CAL2 | CRcalbindin 216q22.2CV:PGCnpG2Cdb.human_mGluR5
G2Cdb.humanNRC
G2Cdb.humanPSP
Potential synaptic genes
27132CPNE7-copine 716q24.3CV:PGCnp
8735MYH13MyHC-IIL | MyHC-eomyosin, heavy chain 13, skeletal muscle17p13CV:GWASdb
CV:PGCnp
PMID:cooccur
1949EFNB3EFL6 | EPLG8 | LERK8ephrin-B317p13.1CV:PGCnp
GO_Annotation
PMID:cooccur
Potential synaptic genes
23746AIPL1AIPL2 | LCA4aryl hydrocarbon receptor interacting protein-like 117p13.1CV:PGCnp
DMG:Wockner_2014
8851CDK5R1CDK5P35 | CDK5R | NCK5A | p23 | p25 | p35 | p35nck5acyclin-dependent kinase 5, regulatory subunit 1 (p35)17q11.2CV:PGCnp
DMG:Nishioka_2013
GO_Annotation
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
10900RUNDC3ARAP2IP | RPIP-8 | RPIP8RUN domain containing 3A17q21.31CV:PGCnp
DMG:Wockner_2014
1748DLX4BP1 | DLX7 | DLX8 | DLX9 | OFC15distal-less homeobox 417q21.33CV:PGCnp
DMG:Wockner_2014
5414SEPT4ARTS | BRADEION | CE5B3 | H5 | MART | PNUTL2 | SEP4 | hCDCREL-2 | hucep-7septin 417q22CV:PGCnp
PMID:cooccur
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
8288EPXEPO | EPP | EPX-PEN | EPXDeosinophil peroxidase17q23.1CV:PGCnp
6329SCN4ACMS16 | HOKPP2 | HYKPP | HYPP | NAC1A | Na(V)1.4 | Nav1.4 | SkM1sodium voltage-gated channel alpha subunit 417q23.3CV:GWASdb
CV:PGCnp
G2Cdb.humanPSD
G2Cdb.humanPSP
9123SLC16A3MCT 3 | MCT 4 | MCT-3 | MCT-4 | MCT3 | MCT4solute carrier family 16 member 317q25CV:PGCnp
DMG:Wockner_2014
4158MC2RACTHRmelanocortin 2 receptor18p11.2CV:PGCnp
PMID:cooccur
8170SLC14A2HUT2 | UT-A2 | UT2 | UTA | UTR | hUT-A6solute carrier family 14 member 218q12.3CV:PGCnp
4772NFATC1NF-ATC | NF-ATc1.2 | NFAT2 | NFATcnuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 118q23CV:GWAScat
CV:GWASdb
CV:PGCnp
DMG:Montano_2016
Network
53345TM6SF2-transmembrane 6 superfamily member 219p13.11CV:PGCnp
LK:YES
3949LDLRFH | FHC | LDLCQ2low density lipoprotein receptor19p13.2CV:PGCnp
Network
PMID:cooccur
Ascano FMRP targets
2525FUT3CD174 | FT3B | FucT-III | LE | Lesfucosyltransferase 3 (Lewis blood group)19p13.3CV:PGCnp
PMID:cooccur
54531MIER2KIAA1193 | Mi-er2MIER family member 219p13.3CV:PGCnp
DMG:Wockner_2014
8570KHSRPFBP2 | FUBP2 | KSRPKH-type splicing regulatory protein19p13.3CV:PGCnp
DMG:Wockner_2014
56301SLC7A10ASC1 | HASC-1 | asc-1solute carrier family 7 member 1019q13.1CV:PGCnp
PMID:cooccur
933CD22SIGLEC-2 | SIGLEC2CD22 molecule19q13.1CV:PGCnp
DMG:Wockner_2014
Network
8193DPF1BAF45b | NEUD4 | neuro-d4double PHD fingers 119q13.2CV:PGCnp
DMG:Nishioka_2013
1084CEACAM3CD66D | CEA | CGM1 | W264 | W282carcinoembryonic antigen related cell adhesion molecule 319q13.2CV:PGCnp
DMG:Nishioka_2013
57716PRXCMT4Fperiaxin19q13.2GO_Annotation
PMID:cooccur
1548CYP2A6CPA6 | CYP2A | CYP2A3 | CYPIIA6 | P450C2A | P450PBcytochrome P450 family 2 subfamily A member 619q13.2CV:PGCnp
PMID:cooccur
81492RSPH6ARSHL1 | RSP4 | RSP6 | RSPH4Bradial spoke head 6 homolog A (Chlamydomonas)19q13.3CV:PGCnp
DMG:Wockner_2014
Expression
2524FUT2B12QTL1 | SE | SEC2 | Se2 | sejfucosyltransferase 219q13.3CV:PGCnp
27036SIGLEC7AIRM1 | CD328 | CDw328 | D-siglec | QA79 | SIGLEC-7 | SIGLEC19P | SIGLECP2 | p75 | p75/AIRM1sialic acid binding Ig like lectin 719q13.3CV:PGCnp
DMG:vanEijk_2014
115653KIR3DL3CD158Z | KIR2DS2 | KIR3DL7 | KIR44 | KIRC1killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 319q13.42CV:PGCnp
3362HTR65-HT6 | 5-HT6R5-hydroxytryptamine receptor 61p36-p35ADT:Sun_2012
Association
CV:PGCnp
GO_Annotation
PMID:cooccur
8431NR0B2SHP | SHP1nuclear receptor subfamily 0 group B member 21p36.1CV:PGCnp
DNM:Fromer_2014
CompositeSet
29943PADI1HPAD10 | PAD1 | PDI | PDI1peptidyl arginine deiminase, type I1p36.13CV:PGCnp
DMG:Wockner_2014
23569PADI4PAD | PAD4 | PADI5 | PDI4 | PDI5peptidyl arginine deiminase, type IV1p36.13CV:GWASdb
CV:PGCnp
PMID:cooccur
2475MTORFRAP | FRAP1 | FRAP2 | RAFT1 | RAPT1 | SKSmechanistic target of rapamycin1p36.2CV:PGCnp
DNM:Xu_2012
PMID:cooccur
CompositeSet
Darnell FMRP targets
Ascano FMRP targets
4878NPPAANF | ANP | ATFB6 | ATRST2 | CDD | CDD-ANF | CDP | PNDnatriuretic peptide A1p36.21CV:PGCnp
2563GABRDEIG10 | EJM7 | GEFSP5gamma-aminobutyric acid type A receptor delta subunit1p36.3CV:PGCnp
GO_Annotation
PMID:cooccur
63976PRDM16CMD1LL | LVNC8 | MEL1 | PFM13PR domain 161p36.32CV:PGCnp
DMG:Wockner_2014
PMID:cooccur
Ascano FMRP targets
2703GJA8CAE | CAE1 | CTRCT1 | CX50 | CZP1 | MP70gap junction protein alpha 81q21.1Association
CNV:YES
CV:PGCnp
GR_Ng
GR_WM
GSMA_I
GSMA_IIA
PMID:cooccur
4807NHLH1HEN1 | NSCL | NSCL1 | bHLHa35nescient helix-loop-helix 11q22CV:PGCnp
GO_Annotation
GSMA_I
GSMA_IIA
PMID:cooccur
3766KCNJ10BIRK-10 | KCNJ13-PEN | KIR1.2 | KIR4.1 | SESAMEpotassium voltage-gated channel subfamily J member 101q23.2CV:PGCnp
GSMA_I
GSMA_IIA
PMID:cooccur
EXCITABILITY
63827BCANBEHAB | CSPG7brevican1q31CV:PGCnp
DMG:Wockner_2014
Expression
GR_Ng
GSMA_I
GSMA_IIA
PMID:cooccur
CELL ADHESION AND TRANSSYNAPTIC SIGNALING
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
1116CHI3L1ASRT7 | CGP-39 | GP-39 | GP39 | HC-gp39 | HCGP-3P | YKL-40 | YKL40 | YYL-40 | hCGP-39chitinase 3 like 11q32.1Association
CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
Expression
GR_Ng
GR_WM
PMID:cooccur
29937NENFCIR2 | SCIRP10 | SPUFneudesin neurotrophic factor1q32.3CV:PGCnp
DMG:Jaffe_2016
8564KMOdJ317G22.1kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)1q42-q44Association
CV:PGCnp
DNM:Guipponi_2014
Expression
GR_Ng
PMID:cooccur
114548NLRP3AGTAVPRL | AII | AVP | C1orf7 | CIAS1 | CLR1.1 | FCAS | FCAS1 | FCU | MWS | NALP3 | PYPAF1NLR family, pyrin domain containing 31q44CV:PGCnp
PMID:cooccur
6238RRBP1ES/130 | ES130 | RRp | hESribosome binding protein 120p12CV:PGCnp
Expression
GSMA_I
RNA AND PROTEIN SYNTHESIS
Ascano FMRP targets
3929LBPBPIFD2lipopolysaccharide binding protein20q11.23CV:PGCnp
GO_Annotation
PMID:cooccur
655BMP7OP-1bone morphogenetic protein 720q13CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
Expression
GO_Annotation
63925ZNF335MCPH10 | NIF-1 | NIF1 | NIF2zinc finger protein 33520q13.12CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
128553TSHZ2C20orf17 | OVC10-2 | TSH2 | ZABC2 | ZNF218teashirt zinc finger homeobox 220q13.2CV:PGCnp
DNM:Fromer_2014
CompositeSet
4661MYT1C20orf36 | MTF1 | MYTI | NZF2 | PLPB1 | ZC2HC4Amyelin transcription factor 120q13.33CV:PGCnp
DMG:Wockner_2014
Expression
GO_Annotation
PMID:cooccur
1826DSCAMCHD2 | CHD2-42 | CHD2-52Down syndrome cell adhesion molecule21q22.2CV:GWASdb
CV:PGCnp
DNM:Fromer_2014
DNM:Xu_2012
GO_Annotation
CompositeSet
Darnell FMRP targets
11077HSF2BP-heat shock transcription factor 2 binding protein21q22.3CV:PGCnp
861RUNX1AML1 | AML1-EVI-1 | AMLCR1 | CBF2alpha | CBFA2 | EVI-1 | PEBP2aB | PEBP2alpharunt related transcription factor 121q22.3CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
PMID:cooccur
23308ICOSLGB7-H2 | B7H2 | B7RP-1 | B7RP1 | CD275 | GL50 | ICOS-L | ICOSL | LICOSinducible T-cell co-stimulator ligand21q22.3CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
1312COMTHEL-S-98ncatechol-O-methyltransferase22q11.21Association
CNV:YES
Core
CV:PGCnp
GO_Annotation
GR_COR
GR_Ng
GR_WM
GSMA_I
Network
PMID:cooccur
DOPAMINE
25787DGCR9DGS-ADiGeorge syndrome critical region gene 9 (non-protein coding)22q11.21CV:PGCnp
84861KLHL22KELCHLkelch like family member 2222q11.21CNV:YES
CV:PGCnp
GSMA_I
CompositeSet
Darnell FMRP targets
8220DGCR14DGCR13 | DGS-H | DGS-I | DGSH | DGSI | ES2 | Es2elDiGeorge syndrome critical region gene 1422q11.21|22q11.2Association
CNV:YES
CV:PGCnp
GO_Annotation
GSMA_I
PMID:cooccur
23762OSBP2HLM | ORP-4 | ORP4 | OSBPL1 | OSBPL4oxysterol binding protein 222q12.2CV:PGCnp
GSMA_I
23598PATZ1MAZR | PATZ | RIAZ | ZBTB19 | ZNF278 | ZSG | dJ400N23POZ/BTB and AT hook containing zinc finger 122q12.2CV:PGCnp
DMG:Wockner_2014
GSMA_I
27128CYTH4CYT4 | DJ63G5.1 | PSCD4cytohesin 422q12.3-q13.1CV:GWASdb
CV:PGCnp
1565CYP2D6CPD6 | CYP2D | CYP2D7AP | CYP2D7BP | CYP2D7P2 | CYP2D8P2 | CYP2DL1 | CYPIID6 | P450-DB1 | P450C2D | P450DB1cytochrome P450 family 2 subfamily D member 622q13.1ADT:Sun_2012
Association
CV:PGCnp
PMID:cooccur
3761KCNJ4HIR | HIRK2 | HRK1 | IRK-3 | IRK3 | Kir2.3potassium voltage-gated channel subfamily J member 422q13.1CV:PGCnp
PMID:cooccur
EXCITABILITY
G2Cdb.human_TAP-PSD-95-CORE
G2Cdb.humanPSD
G2Cdb.humanPSP
6663SOX10DOM | PCWH | WS2E | WS4 | WS4CSRY-box 1022q13.1Association
DEG:Zhao_2015
DMG:Wockner_2014
GO_Annotation
GR_COR
GR_Ng
GR_WM
PMID:cooccur
5155PDGFBIBGC5 | PDGF-2 | PDGF2 | SIS | SSV | c-sisplatelet derived growth factor subunit B22q13.1CV:PGCnp
GO_Annotation
PMID:cooccur
1961EGR4NGFI-C | NGFIC | PAT133early growth response 42p13CV:PGCnp
Expression
PMID:cooccur
3099HK2HKII | HXK2hexokinase 22p13CV:GWASdb
CV:PGCnp
DMG:Jaffe_2016
Ascano FMRP targets
119ADD2ADDBadducin 22p13.3CV:PGCnp
Network
PMID:cooccur
STRUCTURAL PLASTICITY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_mGluR5
CompositeSet
Potential synaptic genes
10936GPR75GPRchr2 | WI31133G protein-coupled receptor 752p16CV:PGCnp
1058CENPACENP-A | CenH3centromere protein A2p23.3CV:PGCnp
151ADRA2BADRA2L1 | ADRA2RL1 | ADRARL1 | ALPHA2BAR | FAME2 | alpha-2BARadrenoceptor alpha 2B2q11.1ADT:Sun_2012
CV:PGCnp
GSMA_I
PMID:cooccur
4867NPHP1JBTS4 | NPH1 | SLSN1nephronophthisis 1 (juvenile)2q13CV:PGCnp
Expression
GR_Ng
GR_WM
GSMA_I
GSMA_IIA
3557IL1RNDIRA | ICIL-1RA | IL-1RN | IL-1ra | IL-1ra3 | IL1F3 | IL1RA | IRAP | MVCD4interleukin 1 receptor antagonist2q14.2Association
CV:PGCnp
GR_Ng
GR_WM
GSMA_I
GSMA_IIA
PMID:cooccur
57818G6PC2IGRPglucose-6-phosphatase catalytic subunit 22q24.3CV:GWASdb
CV:PGCnp
Expression
GSMA_IIA
6326SCN2ABFIC3 | BFIS3 | BFNIS | EIEE11 | HBA | HBSCI | HBSCII | NAC2 | Na(v)1.2 | Nav1.2 | SCN2A1 | SCN2A2sodium voltage-gated channel alpha subunit 22q24.3CV:PGCnp
DNM:Fromer_2014
GSMA_IIA
PMID:cooccur
EXCITABILITY
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
250ALPPALP | PALP | PLAP | PLAP-1alkaline phosphatase, placental2q37CV:PGCnp
251ALPPL2ALPG | ALPPL | GCAPalkaline phosphatase, placental like 22q37CV:PGCnp
79012CAMKV1G5 | VACAMKLCaM kinase-like vesicle-associated3p21.31CV:PGCnpG2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
8997KALRNARHGEF24 | CHD5 | CHDS5 | DUET | DUO | HAPIP | TRADkalirin, RhoGEF kinase3q21.2CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
PMID:cooccur
G2Cdb.human_PocklingtonH1
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
7018TFHEL-S-71p | PRO1557 | PRO2086 | TFQTL1transferrin3q22.1Association
CV:PGCnp
CV:PheWAS
Network
PMID:cooccur
6010RHOCSNBAD1 | OPN2 | RP4rhodopsin3q22.1CV:PGCnp
PMID:cooccur
6657SOX2ANOP3 | MCOPS3SRY-box 23q26.33Expression
PMID:cooccur
10333TLR6CD286toll like receptor 64p14CV:PGCnp
PMID:cooccur
886CCKARCCK-A | CCK1-R | CCK1R | CCKRAcholecystokinin A receptor4p15.2Association
CV:GWAScat
CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
GR_COR
GR_Ng
GR_WM
PMID:cooccur
84179MFSD7LP2561major facilitator superfamily domain containing 74p16.3CV:PGCnp
27284SULT1B1ST1B1 | ST1B2 | SULT1B2sulfotransferase family 1B member 14q13.3CV:PGCnp
DNM:Fromer_2014
GO_Annotation
CompositeSet
2243FGAFib2fibrinogen alpha chain4q28CV:PGCnp
GO_Annotation
PMID:cooccur
4887NPY2RNPY2-Rneuropeptide Y receptor Y24q31CV:PGCnp
PMID:cooccur
1016CDH18CDH14 | CDH14L | CDH24cadherin 185p14.3CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
PMID:cooccur
CELL ADHESION AND TRANSSYNAPTIC SIGNALING
50834TAS2R1T2R1 | TRB7taste 2 receptor member 15p15CV:PGCnp
10085EDIL3DEL1EGF like repeats and discoidin domains 35q14CV:GWASdb
CV:PGCnp
2246FGF1AFGF | ECGF | ECGF-beta | ECGFA | ECGFB | FGF-1 | FGF-alpha | FGFA | GLIO703 | HBGF-1 | HBGF1fibroblast growth factor 15q31Association
CV:PGCnp
GR_Ng
GR_WM
GSMA_I
GSMA_IIA
GSMA_IIE
PMID:cooccur
NEUROTROPHIN SIGNALING
51308REEP2C5orf19 | SGC32445 | SPG72 | Yip2dreceptor accessory protein 25q31CV:PGCnp
GSMA_I
3360HTR45-HT4 | 5-HT4R5-hydroxytryptamine receptor 45q31-q33ADT:Sun_2012
Association
CV:PGCnp
GO_Annotation
GR_Ng
GR_WM
GSMA_I
GSMA_IIA
GSMA_IIE
PMID:cooccur
1437CSF2GMCSFcolony stimulating factor 25q31.1CV:PGCnp
GO_Annotation
GSMA_I
PMID:cooccur
9597SMAD5-AS1DAMS | SMAD5AS | SMAD5OSSMAD5 antisense RNA 15q31.1CV:GWASdb
CV:PGCnp
5145PDE6ACGPR-A | PDEA | RP43phosphodiesterase 6A5q31.2-q34CV:PGCnp
GSMA_I
GSMA_IIA
GSMA_IIE
815CAMK2ACAMKAcalcium/calmodulin-dependent protein kinase II alpha5q32CV:PGCnp
DMG:Wockner_2014
GSMA_I
GSMA_IIA
GSMA_IIE
Network
PMID:cooccur
INTRACELLULAR SIGNAL TRANSDUCTION
SEROTONIN
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_clathrin
G2Cdb.human_PocklingtonH1
G2Cdb.human_Synaptosome
G2Cdb.human_TAP-PSD-95-CORE
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
2741GLRA1HKPX1 | STHEglycine receptor alpha 15q32CV:GWASdb
CV:PGCnp
GO_Annotation
GSMA_I
GSMA_IIA
GSMA_IIE
PMID:cooccur
2554GABRA1ECA4 | EIEE19 | EJM | EJM5gamma-aminobutyric acid type A receptor alpha1 subunit5q34ADT:Sun_2012
Association
CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
GO_Annotation
GR_COR
GR_Ng
GR_WM
GSMA_I
GSMA_IIA
GSMA_IIE
Network
PMID:cooccur
LIGAND GATED ION SIGNALING
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
2566GABRG2CAE2 | ECA2 | GEFSP3gamma-aminobutyric acid type A receptor gamma2 subunit5q34Association
CV:PGCnp
GO_Annotation
GR_COR
GR_Ng
GR_WM
GSMA_I
GSMA_IIA
GSMA_IIE
PMID:cooccur
LIGAND GATED ION SIGNALING
5626PROP1CPHD2 | PROP-1PROP paired-like homeobox 15q35.3CV:PGCnp
DMG:Wockner_2014
GO_Annotation
GSMA_IIA
8521GCM1GCMA | hGCMaglial cells missing homolog 16p12.1CV:PGCnp
GO_Annotation
GSMA_IIE
PMID:cooccur
2740GLP1R-glucagon like peptide 1 receptor6p21CV:PGCnp
GSMA_I
GSMA_IIE
Network
PMID:cooccur
860RUNX2AML3 | CBF-alpha-1 | CBFA1 | CCD | CCD1 | CLCD | OSF-2 | OSF2 | PEA2aA | PEBP2aArunt related transcription factor 26p21CV:GWASdb
CV:PGCnp
DMG:Jaffe_2016
GSMA_IIE
PMID:cooccur
170680PSORS1C2C6orf17 | SPR1psoriasis susceptibility 1 candidate 26p21.3CV:GWASdb
CV:PGCnp
GSMA_I
3111HLA-DOAHLA-DNA | HLA-DZA | HLADZmajor histocompatibility complex, class II, DO alpha6p21.3CV:PGCnp
GSMA_I
PMID:cooccur
1302COL11A2DFNA13 | DFNB53 | FBCG2 | HKE5 | PARP | STL3collagen type XI alpha 26p21.3CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GSMA_I
29113C6orf15STGchromosome 6 open reading frame 156p21.3CV:GWASdb
CV:PGCnp
GSMA_I
25803SPDEFPDEF | bA375E1.3SAM pointed domain containing ETS transcription factor6p21.3CV:PGCnp
GSMA_I
GSMA_IIE
7124TNFDIF | TNF-alpha | TNFA | TNFSF2 | TNLG1Ftumor necrosis factor6p21.3Association
CV:PGCnp
GO_Annotation
GR_COR
GR_Ng
GR_WM
GSMA_I
PMID:cooccur
4049LTALT | TNFB | TNFSF1 | TNLG1Elymphotoxin alpha6p21.3Association
CV:PGCnp
GR_WM
GSMA_I
PMID:cooccur
8340HIST1H2BLH2B/c | H2BFC | dJ97D16.4histone cluster 1, H2bl6p22.1CV:GWASdb
CV:PGCnp
GSMA_I
654BMP6VGR | VGR1bone morphogenetic protein 66p24-p23CV:PGCnp
GSMA_I
PMID:cooccur
3662IRF4LSIRF | MUM1 | NF-EM5 | SHEP8interferon regulatory factor 46p25.3CV:GWAScat
CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
GSMA_I
2570GABRR2-gamma-aminobutyric acid type A receptor rho2 subunit6q15CV:PGCnp
GO_Annotation
PMID:cooccur
2173FABP7B-FABP | BLBP | FABPB | MRGfatty acid binding protein 76q22-q23Association
CV:PGCnp
GO_Annotation
PMID:cooccur
6206RPS12S12ribosomal protein S126q23.2CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
G2Cdb.humanPSD
G2Cdb.humanPSP
4988OPRM1LMOR | M-OR-1 | MOP | MOR | MOR1 | OPRMopioid receptor, mu 16q24-q25ADT:Sun_2012
CV:GWASdb
CV:PGCnp
GO_Annotation
Network
PMID:cooccur
GPCR SIGNALLING
816CAMK2BCAM2 | CAMK2 | CAMKBcalcium/calmodulin-dependent protein kinase II beta7p14.3-p14.1CV:PGCnp
PMID:cooccur
INTRACELLULAR SIGNAL TRANSDUCTION
SEROTONIN
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_clathrin
G2Cdb.human_PocklingtonH1
G2Cdb.human_Synaptosome
G2Cdb.human_TAP-PSD-95-CORE
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
27297CRCPCGRP-RCP | CGRPRCP | RCP | RCP9CGRP receptor component7q11.21CV:PGCnp
DEG:Zhao_2015
1576CYP3A4CP33 | CP34 | CYP3A | CYP3A3 | CYPIIIA3 | CYPIIIA4 | HLP | NF-25 | P450C3 | P450PCN1cytochrome P450 family 3 subfamily A member 47q21.1ADT:Sun_2012
CV:PGCnp
PMID:cooccur
1129CHRM2HM2cholinergic receptor muscarinic 27q31-q35ADT:Sun_2012
CV:PGCnp
DMG:Jaffe_2016
GO_Annotation
PMID:cooccur
GPCR SIGNALLING
50833TAS2R16T2R16taste 2 receptor member 167q31.1-q31.3|7q31CV:GWASdb
CV:PGCnp
23553HYAL4CSHYhyaluronoglucosaminidase 47q31.3CV:PGCnp
DMG:Wockner_2014
5078PAX4KPD | MODY9paired box 47q32CV:PGCnp
5764PTNHARP | HBGF8 | HBNF | NEGF1pleiotrophin7q33CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
Network
PMID:cooccur
Potential synaptic genes
1180CLCN1CLC1chloride voltage-gated channel 17q35CV:PGCnp
DNM:Fromer_2014
CompositeSet
6867TACC1Ga55transforming acidic coiled-coil containing protein 18p11.22CV:PGCnp
DMG:Wockner_2014
56154TEX15CT42testis expressed 158p12CV:PGCnp
DMG:Jaffe_2016
DNM:Fromer_2014
GSMA_IIA
GSMA_IIE
CompositeSet
649BMP1OI13 | PCOLC | PCP | PCP2 | TLDbone morphogenetic protein 18p21.3CV:PGCnp
GSMA_I
GSMA_IIA
GSMA_IIE
80243PREX26230420N16Rik | DEP.2 | DEPDC2 | P-REX2 | PPP1R129phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 28q13.2CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
CompositeSet
Darnell FMRP targets
63978PRDM14PFM11PR domain 148q13.3CV:GWASdb
CV:PGCnp
DMG:Jaffe_2016
54714CNGB3ACHM1cyclic nucleotide gated channel beta 38q21.3CV:GWASdb
CV:PGCnp
389677RBM12BMGC:33837RNA binding motif protein 12B8q22.1DMG:Jaffe_2016
5820PVT1LINC00079 | NCRNA00079 | onco-lncRNA-100Pvt1 oncogene (non-protein coding)8q24CV:PGCnp
DMG:Wockner_2014
7038TGAITD3 | TGNthyroglobulin8q24CV:PGCnp
DMG:Wockner_2014
PMID:cooccur
29894CPSF1CPSF160 | HSU37012 | P/cl.18cleavage and polyadenylation specific factor 18q24.23CV:PGCnpAscano FMRP targets
5079PAX5ALL3 | BSAPpaired box 59p13CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
DNM:Fromer_2014
GO_Annotation
PMID:cooccur
CompositeSet
27240SIT1SIT | SIT-Rsignaling threshold regulating transmembrane adaptor 19p13-p12CV:PGCnp
DMG:vanEijk_2014
DMG:Wockner_2014
3441IFNA4IFN-alpha4a | INFA4interferon, alpha 49p22CV:PGCnp
25769SLC24A2NCKX2solute carrier family 24 member 29p22.1CV:GWASdb
CV:PGCnp
CompositeSet
Darnell FMRP targets
9568GABBR2GABABR2 | GPR51 | GPRC3B | HG20 | HRIHFB2099gamma-aminobutyric acid type B receptor subunit 29q22.1-q22.3CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
PMID:cooccur
LIGAND GATED ION SIGNALING
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
1759DNM1DNM | EIEE31dynamin 19q34CV:PGCnp
DMG:Wockner_2014
Network
PMID:cooccur
ENDOCYTOSIS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_clathrin
G2Cdb.human_mGluR5
G2Cdb.human_Synaptosome
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
Darnell FMRP targets
Potential synaptic genes
212ALAS2ALAS-E | ALASE | ANH1 | ASB | XLDPP | XLEPP | XLSA5'-aminolevulinate synthase 2Xp11.21PMID:cooccur
54552GNL3LGNL3BG protein nucleolar 3 likeXp11.22CV:PGCnp
DMG:vanEijk_2014
Expression
GO_Annotation
8552INE1NCRNA00010inactivation escape 1 (non-protein coding)Xp11.4-p11.3PMID:cooccur
9081PRYPRY1 | PTPN13LYPTPN13-like, Y-linkedYq11.223PMID:cooccur